Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.

ABSTRACT:

Aim

To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.

Method

In this retrospective population-based longitudinal study, brain MRI scans accumulated from 1990 to 2019 at Oulu University Hospital, Finland, were assessed. Inclusion criteria were defined as leukodystrophies or genetic diseases with significant white matter abnormalities that did not meet the criteria for leukodystrophy, at least one brain MRI, and age under 18 years at diagnosis.

Results

A total of 83 patients (48 males, 35 females) were found with 52 different diseases. The median age at the time of the brain MRI was 22 months (interquartile range [IQR] = 46 months). In 72 (87%) of t

SUBMITTER: Oikarainen JH 

PROVIDER: S-EPMC11695792 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature